Guo Li-Liangzi, Chen Jie-Li, Wang Li-Sheng, Yao Jun
Gastroenterology, Shenzhen People's Hospital. Second Clinical Medical College of Jinan University, China.
Gastroenterology, The Second Clinical Medical College. Jinan University, China.
Rev Esp Enferm Dig. 2025 Mar;117(3):161-162. doi: 10.17235/reed.2024.10351/2024.
NF1 is an autosomal dominant hereditary disease, with a prevalence of at least 1 in 4000-5000 population. The diagnosis criteria of NF1 included typical manifestations such as café-au-lait spots, frecking in the axilla or inguinal region, multiple neurofibromas, Lisch nodeules, and distinctive osseous lesions. Genetic testing shows NF1 mutation. It is essential for tumor surveillance in NF1 patients because their life expectancy is about 54 years due to malignancy. A case of NF-1 patient receive laparoscopic small bowel resection and finally diagnosed as adenocarcinoma and ganglioneuroma. About 25% of NF1 patients had GISTs , most of them were asymptomatic and some may manifest with abdominal pain, bowel obstruction, or gastrointestinal bleeding. CT and MRI are commonly used imaging modalities for GIST in NF1, while they may be negative sometimes. As DBE a more practical and non-invasive method now, we consider it is a valuable method for screening and early detecting small intestine disease for NF1 patients.
神经纤维瘤病1型（NF1）是一种常染色体显性遗传病，在人群中的患病率至少为1/4000 - 1/5000。NF1的诊断标准包括典型表现，如牛奶咖啡斑、腋窝或腹股沟区雀斑、多发神经纤维瘤、Lisch结节以及独特的骨病变。基因检测显示NF1突变。对NF1患者进行肿瘤监测至关重要，因为由于恶性肿瘤，他们的预期寿命约为54岁。1例NF - 1患者接受了腹腔镜小肠切除术，最终诊断为腺癌和神经节瘤。约25%的NF1患者患有胃肠道间质瘤（GIST），其中大多数无症状，有些可能表现为腹痛、肠梗阻或胃肠道出血。CT和MRI是NF1中GIST常用的成像方式，但有时可能呈阴性。作为一种更实用且无创的方法，现在我们认为双气囊小肠镜检查（DBE）是筛查和早期检测NF1患者小肠疾病的一种有价值的方法。
